The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- No ClinVar Id was directly found from the curated document
Variant: NM_001354803.2:c.295del
CA2018007672
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 0c341913-df27-4583-812e-f7e5e0c9d34a
HGVS expressions
NM_001354803.2:c.295del
NC_000007.14:g.44145274del
CM000669.2:g.44145274del
NC_000007.13:g.44184873del
CM000669.1:g.44184873del
NC_000007.12:g.44151398del
NG_008847.1:g.49151del
NG_008847.2:g.57898del
ENST00000395796.8:c.*1259del
ENST00000616242.5:c.*381del
ENST00000683378.1:n.487del
ENST00000336642.9:c.295del
ENST00000345378.7:c.1264del
ENST00000403799.8:c.1261del
ENST00000671824.1:c.1324del
ENST00000672743.1:n.273del
ENST00000673284.1:c.1261del
ENST00000336642.8:n.313del
ENST00000345378.6:c.1264del
ENST00000395796.7:c.1258del
ENST00000403799.7:c.1261del
ENST00000437084.1:c.1210del
ENST00000459642.1:n.641del
ENST00000616242.4:n.1258del
NM_000162.3:c.1261del
NM_033507.1:c.1264del
NM_033508.1:c.1258del
NM_000162.4:c.1261del
NM_001354800.1:c.1261del
NM_001354801.1:c.250del
NM_001354802.1:c.121del
NM_001354803.1:c.295del
NM_033507.2:c.1264del
NM_033508.2:c.1258del
NM_000162.5:c.1261del
NM_033507.3:c.1264del
NM_033508.3:c.1258del
Evidence submitted by expert panel
Approved on: 2023-06-26
Published on: 2023-06-26
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